Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990-2021 - PubMed

Review

Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990-2021

Henry C Wilmot et al. Eur J Hum Genet. 2023 May.

Abstract

Antenatal screening and diagnostic testing for Down syndrome has greatly advanced over the past 30 years. The goal of this manuscript is to provide a review of the availability and accessibility of prenatal services and selective termination policies across Europe, Australia, New Zealand, and the United States for the period 1990-2021. We collected data from academic peer-reviewed journals, governmental documents, not-for-profit organizations, correspondence with experts, and other online sources without language restrictions. Prenatal screening services from 1990-2021 became increasingly available across countries, enabling expectant couples the opportunity to gain more accurate information earlier in the pregnancy before assuming the risk associated with more invasive techniques like CVS or amniocentesis. Many countries also began adopting prenatal screening as a qualification for prenatal diagnosis. As of 2021, at least 76.9% of countries offered full coverage for diagnostic testing for Down syndrome from government funding. Abortion coverage for a Down syndrome diagnosis was covered fully by government funding in 52.4% of countries in 1990, increasing to 73.8% in 2021. Understanding the changing landscape of prenatal services builds the foundation for future investigation into social policies that affect the prevalence of Down syndrome.

Conflict of interest statement

Dr. Skotko occasionally consults on the topic of Down syndrome through Gerson Lehrman Group. He receives remuneration from Down syndrome non-profit organizations for speaking engagements and associated travel expenses. Dr. Skotko receives annual royalties from Woodbine House, Inc., for the publication of his book, Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. Within the past two years, he has received research funding from F. Hoffmann-La Roche, Inc. and LuMind Research Down Syndrome Foundation to conduct clinical trials for people with Down syndrome. Dr. Skotko is occasionally asked to serve as an expert witness for legal cases where Down syndrome is discussed. Dr. Skotko serves in a non-paid capacity on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress and the Professional Advisory Committee for the National Center for Prenatal and Postnatal Down Syndrome Resources. Dr. Skotko has a sister with Down syndrome. Dr. de Graaf had a daughter with DS, who passed away in 2005 at the age of 15. He works as science and education officer at the Dutch Down Syndrome Foundation, a nonprofit organization. Frank Buckley serves as CEO of Down Syndrome Education International and Down Syndrome Education USA, nonprofits engaged in research and support for young people with Down syndrome. He had a sister with Down syndrome, who passed away in 2020. Dr. van Casteren has a daughter with Down syndrome. Henry Wilmot declares no conflicts of interest.

Figures

Similar articles

• Socioeconomic and state-level differences in prenatal diagnosis and live birth prevalence of Down's syndrome in the United States.

  Khoshnood B, Pryde P, Blondel B, Lee KS. Khoshnood B, et al. Rev Epidemiol Sante Publique. 2003 Dec;51(6):617-27. Rev Epidemiol Sante Publique. 2003. PMID: 14967994

• Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome.

  Boyd PA, Devigan C, Khoshnood B, Loane M, Garne E, Dolk H; EUROCAT Working Group. Boyd PA, et al. BJOG. 2008 May;115(6):689-96. doi: 10.1111/j.1471-0528.2008.01700.x. BJOG. 2008. PMID: 18410651 Free PMC article.

• Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995-2011).

  Natoli JL, Ackerman DL, McDermott S, Edwards JG. Natoli JL, et al. Prenat Diagn. 2012 Feb;32(2):142-53. doi: 10.1002/pd.2910. Prenat Diagn. 2012. PMID: 22418958 Review.

• From Down syndrome screening to noninvasive prenatal testing: 20 years' experience in Taiwan.

  Shaw SW, Chen CP, Cheng PJ. Shaw SW, et al. Taiwan J Obstet Gynecol. 2013 Dec;52(4):470-4. doi: 10.1016/j.tjog.2013.10.003. Taiwan J Obstet Gynecol. 2013. PMID: 24411028 Review.

Cited by

• A French nationwide study compared various conditions and healthcare use of individuals < 65 years with a Down's syndrome to those without.

  Tuppin P, Barthelemy P, Debeugny G, Rachas A. Tuppin P, et al. Sci Rep. 2023 Dec 10;13(1):21865. doi: 10.1038/s41598-023-49102-4. Sci Rep. 2023. PMID: 38071383 Free PMC article.

• Awareness of down syndrome screening among educated Muslim women is associated with a favorable attitude toward testing.

  Arab K, Halawani L. Arab K, et al. BMC Womens Health. 2024 Sep 12;24(1):508. doi: 10.1186/s12905-024-03346-y. BMC Womens Health. 2024. PMID: 39267004 Free PMC article.

• Correlation between maternal serum biomarkers and the risk of fetal chromosome copy number variants: a single-center retrospective study.

  Zhang M, Gao Y, Liang M, Wang Y, Guo L, Wu D, Xiao H, Lin L, Wang H, Liao S. Zhang M, et al. Arch Gynecol Obstet. 2024 Aug;310(2):933-942. doi: 10.1007/s00404-024-07514-1. Epub 2024 May 30. Arch Gynecol Obstet. 2024. PMID: 38814455

• Molecular explanations for variability of clinical phenotypes.

  McNeill A. McNeill A. Eur J Hum Genet. 2023 May;31(5):491-492. doi: 10.1038/s41431-023-01365-1. Eur J Hum Genet. 2023. PMID: 37165068 Free PMC article. No abstract available.

References

Publication types

MeSH terms

LinkOut - more resources

• Full Text Sources

  • Europe PubMed Central
  • Nature Publishing Group
  • PubMed Central

• Medical

  • MedlinePlus Health Information

• Research Materials

  • NCI CPTC Antibody Characterization Program

• Miscellaneous

  • NCI CPTAC Assay Portal